view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HPSE2_chr10_98452077_99240852 | 99132241 | G | GAGAAAGA others(17): Show |
intron_variant | MODIFIER | HG02257.hp2 HG03654.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0007 | a0001c0001t0001g0038 a0002c0002t0007g0031 |
2 | 142 | 0.0141 | 24 | c.610 others(43): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 3/11 | chr10 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 99132241 | G | GAGAGAGA others(17): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0069 | 1 | 142 | 0.0070 | 24 | c.610 others(43): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 3/11 | chr10 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 99184786 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0002 | a0002c0002 | a0002c0002t0019 | a0002c0002t0019g0089 | 1 | 142 | 0.0070 | 24 | c.449 others(43): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 2/11 | chr10 | TogoVar | |||||||
HRCT1_chr9_35901202_35912136 | 35906595 | A | ACCACCAC others(17): Show |
disruptive_inframe_insertion | MODERATE | HG03579.hp1 | a0049 | a0049c0086 | a0049c0086t0001 | a0049c0086t0001g0000 | 1 | 430 | 0.0023 | 24 | c.316 others(31): Show |
p.His others(37): Show |
HRCT1 | ENSG00000196196.3 | transcript | ENST00000354323.3 | protein_coding | 1/1 | 403/935 | 317/348 | 106/115 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
HRCT1_chr9_35901202_35912136 | 35906595 | A | ACCACCAC others(17): Show |
disruptive_inframe_insertion | MODERATE | HG03041.hp2 | a0047 | a0047c0089 | a0047c0089t0001 | a0047c0089t0001g0000 | 1 | 430 | 0.0023 | 24 | c.316 others(31): Show |
p.His others(37): Show |
HRCT1 | ENSG00000196196.3 | transcript | ENST00000354323.3 | protein_coding | 1/1 | 403/935 | 317/348 | 106/115 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
HRCT1_chr9_35901202_35912136 | 35906598 | A | ACCACCAC others(17): Show |
disruptive_inframe_insertion | MODERATE | HG02080.hp1 | a0007 | a0007c0057 | a0007c0057t0001 | a0007c0057t0001g0000 | 1 | 430 | 0.0023 | 24 | c.316 others(31): Show |
p.His others(37): Show |
HRCT1 | ENSG00000196196.3 | transcript | ENST00000354323.3 | protein_coding | 1/1 | 403/935 | 317/348 | 106/115 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
HRC_chr19_49146198_49160396 | 49156546 | T | TCTCTGGG others(17): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 | a0028 | a0028c0050 | a0028c0050t0001 | a0028c0050t0001g0072 | 1 | 406 | 0.0025 | 24 | c.-13 others(35): Show |
HRC | ENSG00000130528.12 | transcript | ENST00000252825.9 | protein_coding | 1151 | chr19 | TogoVar | |||||||
HRC_chr19_49146198_49160396 | 49157372 | C | CTGGGTCT others(17): Show |
upstream_gene_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 406 | 0.0025 | 24 | c.-21 others(35): Show |
HRC | ENSG00000130528.12 | transcript | ENST00000252825.9 | protein_coding | 1977 | chr19 | TogoVar | |||||||
HRG_chr3_186661014_186683234 | 186675298 | T | TGAGAGAG others(17): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0012 | a0012c0013 | a0012c0013t0001 | a0012c0013t0001g0054 | 1 | 472 | 0.0021 | 24 | c.741 others(39): Show |
HRG | ENSG00000113905.5 | transcript | ENST00000232003.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
HRH3_chr20_62209960_62225278 | 62213082 | T | TAAGGAGA others(17): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00438.hp2 others(48): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 others(9): Show |
51 | 368 | 0.1386 | 24 | c.*29 others(35): Show |
HRH3 | ENSG00000101180.17 | transcript | ENST00000340177.10 | protein_coding | 1877 | chr20 | TogoVar | |||||||
HRH3_chr20_62209960_62225278 | 62213478 | G | GGGGGGAA others(17): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG01243.hp2 HG02273.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0006 others(1): Show |
10 | 368 | 0.0272 | 24 | c.*25 others(35): Show |
HRH3 | ENSG00000101180.17 | transcript | ENST00000340177.10 | protein_coding | 1481 | chr20 | TogoVar | |||||||
HRH3_chr20_62209960_62225278 | 62213681 | A | AGGAGAGC others(17): Show |
downstream_gene_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0003 | 1 | 368 | 0.0027 | 24 | c.*23 others(35): Show |
HRH3 | ENSG00000101180.17 | transcript | ENST00000340177.10 | protein_coding | 1278 | chr20 | TogoVar | |||||||
HRH3_chr20_62209960_62225278 | 62213755 | G | GATGGGTT others(17): Show |
downstream_gene_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 368 | 0.0027 | 24 | c.*22 others(35): Show |
HRH3 | ENSG00000101180.17 | transcript | ENST00000340177.10 | protein_coding | 1204 | chr20 | TogoVar | |||||||
HRURF_chr8_22125458_22136010 | 22130954 | T | TAGAGCGC others(17): Show |
5_prime_UTR_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0000 | 1 | 408 | 0.0025 | 24 | c.-24 others(33): Show |
HRURF | ENSG00000288677.2 | transcript | ENST00000518377.3 | protein_coding | 1/1 | 247 | chr8 | TogoVar | ||||||
HR_chr8_22109419_22136010 | 22130954 | T | TAGAGCGC others(17): Show |
5_prime_UTR_variant | MODIFIER | HG04228.hp1 | a0026 | a0026c0051 | a0026c0051t0027 | a0026c0051t0027g0114 | 1 | 408 | 0.0025 | 24 | c.-56 others(33): Show |
HR | ENSG00000168453.16 | transcript | ENST00000381418.9 | protein_coding | 1/19 | 1785 | chr8 | TogoVar | ||||||
HS2ST1_chr1_86909635_87114982 | 87018132 | C | CCACACAC others(17): Show |
intron_variant | MODIFIER | HG02630.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0047 a0001c0001t0003g0048 |
2 | 154 | 0.0130 | 24 | c.125 others(43): Show |
HS2ST1 | ENSG00000153936.18 | transcript | ENST00000370550.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HS3ST1_chr4_11388150_11433894 | 11429643 | C | CTTTTTTT others(17): Show |
upstream_gene_variant | MODIFIER | HG01516.hp2 HG01517.hp1 NA18747.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003a0001c0002t0004 | a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0304 others(3): Show |
6 | 440 | 0.0136 | 24 | c.-10 others(35): Show |
HS3ST1 | ENSG00000002587.10 | transcript | ENST00000002596.6 | protein_coding | 750 | chr4 | TogoVar | |||||||
HS3ST2_chr16_22809162_22921338 | 22818761 | A | ATTCCTTC others(17): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0044 | 1 | 350 | 0.0029 | 24 | c.485 others(41): Show |
HS3ST2 | ENSG00000122254.7 | transcript | ENST00000261374.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HS3ST2_chr16_22809162_22921338 | 22913123 | A | AAAGGAAG others(17): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0026 | 1 | 350 | 0.0029 | 24 | c.486 others(41): Show |
HS3ST2 | ENSG00000122254.7 | transcript | ENST00000261374.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HS3ST2_chr16_22809162_22921338 | 22913148 | A | AAGGGAGG others(17): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0011 | 1 | 350 | 0.0029 | 24 | c.486 others(41): Show |
HS3ST2 | ENSG00000122254.7 | transcript | ENST00000261374.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HS3ST2_chr16_22809162_22921338 | 22918377 | G | GGTGTGTG others(17): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00609.hp2 others(68): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0145 a0001c0001t0001g0146 others(68): Show |
71 | 350 | 0.2029 | 24 | c.*28 others(35): Show |
HS3ST2 | ENSG00000122254.7 | transcript | ENST00000261374.4 | protein_coding | 2040 | chr16 | TogoVar | |||||||
HS3ST3A1_chr17_13489032_13606929 | 13512305 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0002 | a0001c0002t0074 | a0001c0002t0074g0309 | 1 | 338 | 0.0030 | 24 | c.600 others(43): Show |
HS3ST3A1 | ENSG00000153976.3 | transcript | ENST00000284110.2 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
HS3ST3A1_chr17_13489032_13606929 | 13585186 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0217 | 1 | 338 | 0.0030 | 24 | c.599 others(43): Show |
HS3ST3A1 | ENSG00000153976.3 | transcript | ENST00000284110.2 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
HS3ST3B1_chr17_14296081_14354404 | 14329315 | G | GAGAAAGA others(17): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0160 | 1 | 432 | 0.0023 | 24 | c.555 others(43): Show |
HS3ST3B1 | ENSG00000125430.9 | transcript | ENST00000360954.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HS3ST3B1_chr17_14296081_14354404 | 14329367 | A | AAAGGAAG others(17): Show |
intron_variant | MODIFIER | HG00639.hp1 HG03516.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0047a0001c0002t0067 | a0001c0001t0047g0167 a0001c0002t0067g0011 |
2 | 432 | 0.0046 | 24 | c.555 others(43): Show |
HS3ST3B1 | ENSG00000125430.9 | transcript | ENST00000360954.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HS3ST3B1_chr17_14296081_14354404 | 14329367 | A | AAGAAAAG others(17): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0228 | 1 | 432 | 0.0023 | 24 | c.555 others(43): Show |
HS3ST3B1 | ENSG00000125430.9 | transcript | ENST00000360954.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HS3ST3B1_chr17_14296081_14354404 | 14329367 | A | AAGAAAGA others(17): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0306 | 1 | 432 | 0.0023 | 24 | c.555 others(43): Show |
HS3ST3B1 | ENSG00000125430.9 | transcript | ENST00000360954.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HS3ST4_chr16_25686959_26142685 | 25857919 | C | CCTTCCTT others(17): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0129 | 1 | 164 | 0.0061 | 24 | c.734 others(45): Show |
HS3ST4 | ENSG00000182601.7 | transcript | ENST00000331351.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HS3ST4_chr16_25686959_26142685 | 25857919 | C | CCTTCCTT others(17): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01934.hp2 |
a0002a0004 | a0002c0002a0004c0008 | a0002c0002t0003a0004c0008t0001 | a0002c0002t0003g0036 a0004c0008t0001g0074 |
2 | 164 | 0.0122 | 24 | c.734 others(45): Show |
HS3ST4 | ENSG00000182601.7 | transcript | ENST00000331351.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HS3ST4_chr16_25686959_26142685 | 25857919 | C | CCTTCCTT others(17): Show |
intron_variant | MODIFIER | HG02886.hp2 HG02922.hp2 HG03209.hp2 others(6): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0059 others(6): Show |
9 | 164 | 0.0549 | 24 | c.734 others(45): Show |
HS3ST4 | ENSG00000182601.7 | transcript | ENST00000331351.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HS3ST4_chr16_25686959_26142685 | 25857919 | C | CCTTTCTT others(17): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0087 | 1 | 164 | 0.0061 | 24 | c.734 others(45): Show |
HS3ST4 | ENSG00000182601.7 | transcript | ENST00000331351.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HS3ST4_chr16_25686959_26142685 | 26051908 | C | CCCTTCCT others(17): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0071 | 1 | 164 | 0.0061 | 24 | c.735 others(43): Show |
HS3ST4 | ENSG00000182601.7 | transcript | ENST00000331351.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HS3ST4_chr16_25686959_26142685 | 26054269 | G | GGAGAGAG others(17): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02922.hp1 HG03209.hp1 others(2): Show |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0005 | a0001c0001t0003a0001c0001t0004a0003c0003t0003others(1): Show | a0001c0001t0003g0001 a0001c0001t0003g0162 a0001c0001t0004g0084 others(2): Show |
5 | 164 | 0.0305 | 24 | c.735 others(43): Show |
HS3ST4 | ENSG00000182601.7 | transcript | ENST00000331351.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HS3ST5_chr6_114050596_114348023 | 114341222 | G | GGAGAGAG others(17): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0062 | 1 | 206 | 0.0049 | 24 | c.-33 others(41): Show |
HS3ST5 | ENSG00000249853.9 | transcript | ENST00000312719.10 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
HS6ST2_chrX_132621015_132963629 | 132756820 | G | GGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0191 | 1 | 201 | 0.0050 | 24 | c.948 others(43): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 2/4 | chrX | TogoVar | |||||||
HS6ST2_chrX_132621015_132963629 | 132829199 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00609.hp1 HG00642.hp1 others(12): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0053 others(12): Show |
15 | 201 | 0.0746 | 24 | c.948 others(45): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 2/4 | chrX | TogoVar | |||||||
HS6ST3_chr13_96085107_96844562 | 96304679 | T | TTTTCTTT others(17): Show |
intron_variant | MODIFIER | HG01358.hp2 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0036 | a0001c0001t0002g0089 a0001c0001t0036g0001 |
2 | 116 | 0.0172 | 24 | c.707 others(45): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
HS6ST3_chr13_96085107_96844562 | 96366448 | C | CAAATAAA others(17): Show |
intron_variant | MODIFIER | NA18747.hp1 NA18979.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0094 a0001c0001t0004g0093 |
2 | 116 | 0.0172 | 24 | c.707 others(45): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
HS6ST3_chr13_96085107_96844562 | 96366466 | A | AATAAATA others(17): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 116 | 0.0086 | 24 | c.707 others(45): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
HS6ST3_chr13_96085107_96844562 | 96381410 | G | GTATCTAT others(17): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 116 | 0.0086 | 24 | c.707 others(45): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
HS6ST3_chr13_96085107_96844562 | 96381410 | G | GTATCTAT others(17): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0014 | 1 | 116 | 0.0086 | 24 | c.707 others(45): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
HS6ST3_chr13_96085107_96844562 | 96706413 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02080.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(1): Show | a0001c0001t0001g0029 a0001c0001t0004g0110 a0001c0001t0012g0087 others(1): Show |
4 | 116 | 0.0345 | 24 | c.708 others(45): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
HSCB_chr22_28737039_28762510 | 28750945 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 410 | 0.0024 | 24 | c.569 others(39): Show |
HSCB | ENSG00000100209.11 | transcript | ENST00000216027.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
HSD17B11_chr4_87331515_87396188 | 87394086 | T | TTACTTAC others(17): Show |
upstream_gene_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0340 | 1 | 390 | 0.0026 | 24 | c.-30 others(35): Show |
HSD17B11 | ENSG00000198189.11 | transcript | ENST00000358290.9 | protein_coding | 2899 | chr4 | TogoVar | |||||||
HSD17B12_chr11_43675738_43861615 | 43810367 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | HG02976.hp1 NA18944.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0142 a0002c0002t0002g0175 |
2 | 280 | 0.0071 | 24 | c.392 others(41): Show |
HSD17B12 | ENSG00000149084.13 | transcript | ENST00000278353.10 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HSD17B14_chr19_48808018_48841491 | 48816779 | T | TTTTCTTT others(17): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG00741.hp2 others(30): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0034 a0001c0001t0001g0041 a0001c0001t0001g0046 others(30): Show |
33 | 394 | 0.0838 | 24 | c.370 others(41): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 5/8 | chr19 | TogoVar | |||||||
HSD17B14_chr19_48808018_48841491 | 48826528 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01069.hp2 HG01071.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 a0001c0001t0001g0087 a0001c0001t0001g0123 others(5): Show |
8 | 394 | 0.0203 | 24 | c.369 others(41): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 5/8 | chr19 | TogoVar | |||||||
HSD17B14_chr19_48808018_48841491 | 48826542 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01975.hp1 HG02622.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0058 a0001c0001t0001g0081 a0002c0002t0001g0350 |
3 | 394 | 0.0076 | 24 | c.369 others(41): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 5/8 | chr19 | TogoVar | |||||||
HSD17B14_chr19_48808018_48841491 | 48826542 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0289 | 1 | 394 | 0.0025 | 24 | c.369 others(41): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 5/8 | chr19 | TogoVar | |||||||
HSD17B2_chr16_82030253_82103534 | 82097284 | G | GTGTATAT others(17): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG00735.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0016 a0001c0001t0001g0192 a0001c0001t0001g0201 others(18): Show |
22 | 366 | 0.0601 | 24 | c.803 others(39): Show |
HSD17B2 | ENSG00000086696.11 | transcript | ENST00000199936.9 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |